Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder

M L Martínez-Frías; M Martín; M Pardo; F Fernandez de las Heras; J L Frías

doi:10.1002/ajmg.1320550212

Distal aphalangia, syndactyly, and extra metatarsal, associated with short stature, microcephaly, and borderline intelligence: a new autosomal dominant disorder

Am J Med Genet. 1995 Jan 16;55(2):213-6. doi: 10.1002/ajmg.1320550212.

Authors

M L Martínez-Frías¹, M Martín, M Pardo, F Fernandez de las Heras, J L Frías

Affiliation

¹ ECEMC, Facultad de Medicina, Universidad Complutense, Madrid, Spain.

PMID: 7717420
DOI: 10.1002/ajmg.1320550212

Abstract

We report on 3 members of a Spanish family with partial aphalangia, syndactyly with duplication of metatarsal IV, microcephaly, dull intelligence, and short stature. The MCA pattern observed in this family appears to constitute a previously undescribed syndrome.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Abnormalities, Multiple / genetics*
Dwarfism / genetics
Female
Foot Deformities, Congenital / genetics
Genes, Dominant
Hand Deformities, Congenital / genetics
Humans
Infant, Newborn
Intellectual Disability / genetics*
Male
Microcephaly / genetics
Pedigree
Pregnancy
Syndrome